Canonical Allele Identifier: CA1881760240

Gene: POMT1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.131523011C= , CM000671.2:g.131523011C=	GRCh38
NC_000009.11:g.134398398C= , CM000671.1:g.134398398C=	GRCh37
NC_000009.10:g.133388219C=	NCBI36
NG_008896.1:g.25110C=
NG_008896.2:g.25110C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000341012.13:c.1921C=	ENSP00000343034.7:p.Arg641=
ENST00000404875.7:n.2623C=
ENST00000423007.6:c.2140C=	ENSP00000404119.2:p.Arg714=
ENST00000677295.2:c.*2427C=	ENSP00000504346.2:n.*2427C=
ENST00000678264.2:c.*2266C=	ENSP00000503157.2:n.*2266C=
ENST00000682070.1:n.2393C=
ENST00000682639.1:c.80C=
ENST00000682813.1:n.2480C=
ENST00000683231.1:c.80C=
ENST00000683392.1:n.4675C=
ENST00000683712.1:n.2488C=
ENST00000683900.1:n.3983C=
ENST00000684062.1:n.2749C=
ENST00000684399.1:c.80C=
ENST00000684579.1:n.3929C=
ENST00000341012.12:c.1921C=	ENSP00000343034.7:p.Arg641=
ENST00000372220.5:c.952C=	ENSP00000361294.5:p.Arg318=
ENST00000372228.9:c.2149C=	ENSP00000361302.3:p.Arg717=
ENST00000402686.8:c.2083C= MANE Select	ENSP00000385797.4:p.Arg695=
ENST00000676640.1:c.2083C=	ENSP00000503281.1:p.Arg695=
ENST00000676803.1:c.1144C=	ENSP00000503093.1:p.Arg382=
ENST00000676835.1:c.*1298C=	ENSP00000502911.1:n.*1298C=
ENST00000677029.1:c.1627C=	ENSP00000502936.1:p.Arg543=
ENST00000677099.1:c.*1793C=	ENSP00000504553.1:n.*1793C=
ENST00000677216.1:c.1732C=	ENSP00000503772.1:p.Arg578=
ENST00000677221.1:n.1108C=
ENST00000677295.1:c.*1305C=	ENSP00000504346.1:n.*1305C=
ENST00000677444.1:c.2028C=
ENST00000677586.1:n.1450C=
ENST00000677626.1:c.1732C=	ENSP00000503552.1:p.Arg578=
ENST00000677853.1:c.*1091C=	ENSP00000503488.1:n.*1091C=
ENST00000678264.1:c.*1460C=	ENSP00000503157.1:n.*1460C=
ENST00000678303.1:c.1993C=	ENSP00000503696.1:p.Arg665=
ENST00000678366.1:c.*2332C=	ENSP00000504353.1:n.*2332C=
ENST00000678546.1:c.*2028C=	ENSP00000503062.1:n.*2028C=
ENST00000678548.1:c.*2222C=	ENSP00000503934.1:n.*2222C=
ENST00000678626.1:n.1919C=
ENST00000678739.1:c.*2249C=	ENSP00000503806.1:n.*2249C=
ENST00000678833.1:c.*1835C=	ENSP00000503893.1:n.*1835C=
ENST00000679023.1:c.1921C=	ENSP00000503718.1:p.Arg641=
ENST00000679076.1:c.1702C=
ENST00000679111.1:c.*839C=	ENSP00000504257.1:n.*839C=
ENST00000679189.1:c.1732C=	ENSP00000503356.1:p.Arg578=
ENST00000341012.11:c.1921C=	ENSP00000343034.7:p.Arg641=
ENST00000372220.4:c.946C=	ENSP00000361294.4:p.Arg316=
ENST00000372228.7:c.2149C=	ENSP00000361302.3:p.Arg717=
ENST00000402686.7:c.2083C=	ENSP00000385797.3:p.Arg695=
ENST00000404875.6:c.1732C=	ENSP00000384531.2:p.Arg578=
ENST00000423007.5:c.2083C=	ENSP00000404119.1:p.Arg695=
ENST00000485278.5:n.2633C=
NM_001077365.1:c.2083C=	NP_001070833.1:p.Arg695=
NM_001077366.1:c.1921C=	NP_001070834.1:p.Arg641=
NM_001136113.1:c.2083C=	NP_001129585.1:p.Arg695=
NM_001136114.1:c.1732C=	NP_001129586.1:p.Arg578=
NM_007171.3:c.2149C=	NP_009102.3:p.Arg717=
XM_005272156.1:c.2149C=	XP_005272213.1:p.Arg717=
XM_005272158.1:c.1987C=	XP_005272215.1:p.Arg663=
XM_005272159.1:c.1798C=	XP_005272216.1:p.Arg600=
XM_005272162.1:c.952C=	XP_005272219.1:p.Arg318=
XM_006716932.1:c.1798C=	XP_006716995.1:p.Arg600=
XM_011518140.1:c.2002C=	XP_011516442.1:p.Arg668=
XM_011518141.1:c.1936C=	XP_011516443.1:p.Arg646=
XM_011518142.1:c.1840C=	XP_011516444.1:p.Arg614=
XM_011518143.1:c.1834C=	XP_011516445.1:p.Arg612=
XM_011518145.1:c.1693C=	XP_011516447.1:p.Arg565=
XM_011518147.1:c.1021C=	XP_011516449.1:p.Arg341=
XR_929703.1:n.2325C=
NM_001353193.1:c.2149C=	NP_001340122.1:p.Arg717=
NM_001353194.1:c.1921C=	NP_001340123.1:p.Arg641=
NM_001353195.1:c.1732C=	NP_001340124.1:p.Arg578=
NM_001353196.1:c.1993C=	NP_001340125.1:p.Arg665=
NM_001353197.1:c.1987C=	NP_001340126.1:p.Arg663=
NM_001353198.1:c.1987C=	NP_001340127.1:p.Arg663=
NM_001353199.1:c.1798C=	NP_001340128.1:p.Arg600=
NM_001353200.1:c.1627C=	NP_001340129.1:p.Arg543=
NR_148391.1:n.2133C=
NR_148392.1:n.2351C=
NR_148393.1:n.2272C=
NR_148394.1:n.2026C=
NR_148395.1:n.2424C=
NR_148396.1:n.2058C=
NR_148397.1:n.2183C=
NR_148398.1:n.2138C=
NR_148399.1:n.2664C=
NR_148400.1:n.2263C=
XM_005272162.3:c.952C=	XP_005272219.1:p.Arg318=
XM_006716932.2:c.1798C=	XP_006716995.1:p.Arg600=
XM_011518140.2:c.2002C=	XP_011516442.1:p.Arg668=
XM_011518141.2:c.1936C=	XP_011516443.1:p.Arg646=
XM_011518142.2:c.1840C=	XP_011516444.1:p.Arg614=
XM_011518143.2:c.1834C=	XP_011516445.1:p.Arg612=
XM_011518145.2:c.1693C=	XP_011516447.1:p.Arg565=
XM_017014205.2:c.952C=	XP_016869694.1:p.Arg318=
XM_024447380.1:c.952C=	XP_024303148.1:p.Arg318=
XM_024447381.1:c.1258C=	XP_024303149.1:p.Arg420=
XM_024447382.1:c.952C=	XP_024303150.1:p.Arg318=
XR_001746160.2:n.2253C=
XR_001746162.2:n.2458C=
XR_001746164.1:n.2175C=
XR_001746166.2:n.2470C=
NM_001077365.2:c.2083C= MANE Select	NP_001070833.1:p.Arg695=
NM_001077366.2:c.1921C=	NP_001070834.1:p.Arg641=
NM_001136113.2:c.2083C=	NP_001129585.1:p.Arg695=
NM_001136114.2:c.1732C=	NP_001129586.1:p.Arg578=
NM_001353193.2:c.2149C=	NP_001340122.2:p.Arg717=
NM_001353194.2:c.1921C=	NP_001340123.1:p.Arg641=
NM_001353195.2:c.1732C=	NP_001340124.1:p.Arg578=
NM_001353196.2:c.1993C=	NP_001340125.1:p.Arg665=
NM_001353197.2:c.1987C=	NP_001340126.2:p.Arg663=
NM_001353198.2:c.1987C=	NP_001340127.2:p.Arg663=
NM_001353199.2:c.1798C=	NP_001340128.2:p.Arg600=
NM_001353200.2:c.1627C=	NP_001340129.1:p.Arg543=
NM_001374689.1:c.2071C=	NP_001361618.1:p.Arg691=
NM_001374690.1:c.1864C=	NP_001361619.1:p.Arg622=
NM_001374691.1:c.1732C=	NP_001361620.1:p.Arg578=
NM_001374692.1:c.1732C=	NP_001361621.1:p.Arg578=
NM_001374693.1:c.1732C=	NP_001361622.1:p.Arg578=
NM_001374695.1:c.1693C=	NP_001361624.1:p.Arg565=
NM_007171.4:c.2149C=	NP_009102.4:p.Arg717=
NR_148391.2:n.2117C=
NR_148392.2:n.2335C=
NR_148393.2:n.2256C=
NR_148394.2:n.2010C=
NR_148395.2:n.2408C=
NR_148396.2:n.2042C=
NR_148397.2:n.2167C=
NR_148398.2:n.2122C=
NR_148399.2:n.2648C=
NR_148400.2:n.2247C=